Epidermolysis Bullosa with Pyloric Atresia in a Premature Infant

Abstract

Introduction: Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare subtype of the broader bullous disorder known as epidermolysis bullosa resulting from mutations in basal keratinocyte proteins, most notably plectin or α6β4 integrin.

Objective: Our case aims to highlight both the cutaneous and extracutaneous manifestations of this entity that lead to a diagnosis and guide management.

Case: We report a case of EB-PA in a newborn born with skin fragility and respiratory distress, later found to have mutations in both PLEC genes on chromosome 8. In addition to forming bullae and erosions requiring diligent wound care, she developed pyloric atresia and hypoxia from respiratory secretions necessitating a pyloromyotomy and proximal duodenal resection, tracheostomy tube, gastrostomy tube, and antibiotics for intermittent sepsis.

Conclusion: EB-PA is characterized by instability in all plectin-containing tissues, particularly the skin, but the prevalence of plectin throughout the body can lead to wide-ranging and serious complications, including gastrointestinal and tracheoesophageal strictures, protein-losing enteropathy, and renal anomalies. EB is readily recognizable clinically when presenting with classic bullae but given the serious nature of the extracutaneous manifestations of EB-PA, prompt diagnosis with genetic testing and surveillance for systemic involvement is essential to promote comfort and survival in this potentially fatal neonatal disease.